Research panel - Severe Paediatric Disorders
Gene: FTL

FTL (ferritin light chain)
EnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FTL; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hyperferritinemia-cataract syndrome, 600886 (3) | L-ferritin deficiency, dominant and recessive, 615604 (3) | Neurodegeneration with brain iron accumulation 3, 606159 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Hyperferritinemia-cataract syndrome, 600886
L-ferritin deficiency, dominant and recessive, 615604
Neurodegeneration with brain iron accumulation 3, 606159

OMIM

134790

Clinvar variants

Variants in FTL

Penetrance

None

Publications

30847515

Panels with this gene